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Lipid proteinosis

Synonyms
Hyalinosis cutis et mucosae; LIPOID PROTEINOSIS; Lipoid Proteinosis of Urbach and Wiethe; Lipoproteinosis; Urbach Wiethe disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Lipoid Proteinosis
Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hassan Vahidnezhad
Leila Youssefian
Jouni Uitto
view full author information

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: URBWD, ECM1
    Summary: extracellular matrix protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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